Gordana Raca, MD, PhD

Professor of Clinical Pathology

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Publications

  • Pediatric Sertoli-Leydig Cell Tumors of the Ovary: An Integrated Study of Clinicopathological Features, Pan-cancer-Targeted Next-generation Sequencing and Chromosomal Microarray Analysis From a Single Institution Am J Surg Pathol. 2024 Feb 01; 48(2):194-203. . View in PubMed
  • An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors J Mol Diagn. 2024 Feb; 26(2):127-139. . View in PubMed
  • A framework for the clinical implementation of optical genome mapping in hematologic malignancies Am J Hematol. 2024 Jan 02. . View in PubMed
  • Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory J Mol Diagn. 2024 Jan; 26(1):49-60. . View in PubMed
  • Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy Pediatr Neurol. 2024 Jan; 150:50-56. . View in PubMed
  • Analytic Validation of Optical Genome Mapping in Hematological Malignancies Biomedicines. 2023 Dec 09; 11(12). . View in PubMed
  • Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma Mod Pathol. 2023 Nov 20; 37(2):100385. . View in PubMed
  • Cytogenetics Is a Science, Not a Technique! Why Optical Genome Mapping Is So Important to Clinical Genetic Laboratories Cancers (Basel). 2023 Nov 19; 15(22). . View in PubMed
  • Response to Spurdle et al Genet Med. 2023 Aug; 25(8):100869. . View in PubMed
  • Modern Classification and Management of Pediatric B-cell Leukemia and Lymphoma Surg Pathol Clin. 2023 Jun; 16(2):249-266. . View in PubMed
  • Efficacy and safety of FLAG-IDA as front-line therapy in de novo paediatric acute myeloid leukaemia population Br J Haematol. 2023 07; 202(1):e3-e6. . View in PubMed
  • Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) Genet Med. 2023 02; 25(2):100316. . View in PubMed
  • CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase Nucleic Acids Res. 2023 01 06; 51(D1):D1230-D1241. . View in PubMed
  • ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy Brain. 2023 04 19; 146(4):1357-1372. . View in PubMed
  • Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) Genet Med. 2022 Sep; 24(9):1991. . View in PubMed
  • Pediatric Metastatic Hepatoblastoma With an ARID1A Mutation and Rhabdoid Cells Int J Surg Pathol. 2022 May; 30(3):307-312. . View in PubMed
  • Primary Adrenal Malignant Rhabdoid Tumor in a 14-Year-Old Female: A Case Report and Literature Review Int J Surg Pathol. 2022 Apr; 30(2):172-176. . View in PubMed
  • PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas Pediatr Dev Pathol. 2022 Mar-Apr; 25(2):134-140. . View in PubMed
  • MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1-like B-lymphoblastic leukemia Leuk Lymphoma. 2022 06; 63(6):1436-1444. . View in PubMed
  • Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions Cancer Genet. 2022 06; 264-265:50-59. . View in PubMed
  • Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC) Genet Med. 2022 05; 24(5):986-998. . View in PubMed
  • A community approach to the cancer-variant-interpretation bottleneck Nat Cancer. 2022 05; 3(5):522-525. . View in PubMed
  • Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis Cancer Genet. 2022 01; 260-261:37-40. . View in PubMed
  • Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature Leukemia. 2022 Jan; 36(1):299-300. . View in PubMed
  • Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping Blood Adv. 2022 06 14; 6(11):3343-3346. . View in PubMed
  • Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) Genet Med. 2021 Nov; 23(11):2230. . View in PubMed
  • Primary Knee Intra-articular Synovial Sarcoma in Pediatric and Adolescent Patients Pediatr Dev Pathol. 2021 Mar-Apr; 24(2):159-163. . View in PubMed
  • Recommendations for future extensions to the HGNC gene fusion nomenclature Leukemia. 2021 12; 35(12):3611-3612. . View in PubMed
  • Increased Incidence of IKZF1 deletions and IGH-CRLF2 translocations in B-ALL of Hispanic/Latino children-a novel health disparity Leukemia. 2021 08; 35(8):2399-2402. . View in PubMed
  • A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies Cancer Genet. 2021 06; 254-255:25-33. . View in PubMed
  • Response to Mounts and Besser Genet Med. 2021 01; 23(1):240-242. . View in PubMed
  • Dilated cardiomyopathy in a patient with autosomal dominant EEF1A2-related neurodevelopmental disorder Eur J Med Genet. 2021 Jan; 64(1):104121. . View in PubMed
  • Increased prevalence of CRLF2 rearrangements in obesity-associated acute lymphoblastic leukemia Blood. 2021 07 15; 138(2):199-202. . View in PubMed
  • Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee Arch Pathol Lab Med. 2021 02 01; 145(2):176-190. . View in PubMed
  • Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG) Genet Med. 2020 07; 22(7):1133-1141. . View in PubMed
  • Response to Maya et al Genet Med. 2020 07; 22(7):1278-1279. . View in PubMed
  • Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia Cancer Genet. 2020 05; 243:52-72. . View in PubMed
  • A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer Nat Genet. 2020 04; 52(4):448-457. . View in PubMed
  • Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) Genet Med. 2020 02; 22(2):245-257. . View in PubMed
  • Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC) Genet Med. 2019 09; 21(9):1903-1916. . View in PubMed
  • A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants Cold Spring Harb Mol Case Stud. 2019 04; 5(2). . View in PubMed
  • Standard operating procedure for curation and clinical interpretation of variants in cancer Genome Med. 2019 11 29; 11(1):76. . View in PubMed
  • Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group Cancer Genet. 2018 12; 228-229:218-235. . View in PubMed
  • Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms Cancer Genet. 2018 12; 228-229:197-217. . View in PubMed
  • OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies J Mol Diagn. 2018 11; 20(6):765-776. . View in PubMed
  • Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards Hum Mutat. 2018 11; 39(11):1721-1732. . View in PubMed
  • Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia Pediatr Blood Cancer. 2018 09; 65(9):e27265. . View in PubMed
  • Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies Blood Adv. 2018 01 23; 2(2):146-150. . View in PubMed
  • A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia Cancer Genet. 2017 Oct; 216-217:91-99. . View in PubMed
  • Diagnostic evaluation of RNA sequencing for the detection of genetic abnormalities associated with Ph-like acute lymphoblastic leukemia (ALL) Leuk Lymphoma. 2017 04; 58(4):950-958. . View in PubMed
  • Segmental Chromosomal Aberrations in Localized Neuroblastoma Can be Detected in Formalin-Fixed Paraffin-Embedded Tissue Samples and Are Associated With Recurrence Pediatr Blood Cancer. 2016 Jun; 63(6):1019-23. . View in PubMed
  • Congenital B-lymphoblastic leukemia with a cryptic MLL rearrangement and post-treatment evolution to mixed phenotype acute leukemia Leuk Res Rep. 2016; 6:29-32. . View in PubMed
  • Cerdulatinib, a novel dual SYK/JAK kinase inhibitor, has broad anti-tumor activity in both ABC and GCB types of diffuse large B cell lymphoma Oncotarget. 2015 Dec 22; 6(41):43881-96. . View in PubMed
  • T-LAK cell-originated protein kinase presents a novel therapeutic target in FLT3-ITD mutated acute myeloid leukemia Oncotarget. 2015 Oct 20; 6(32):33410-25. . View in PubMed
  • Next-generation sequencing reveals clinically actionable molecular markers in myeloid sarcoma Leukemia. 2015 Oct; 29(10):2113-6. . View in PubMed
  • Predicting Prognosis in Chronic Lymphocytic Leukemia in the Contemporary Era JAMA Oncol. 2015 Oct; 1(7):965-74. . View in PubMed
  • Prognosis in Chronic Lymphocytic Leukemia-Reply JAMA Oncol. 2015 Oct; 1(7):988-9. . View in PubMed
  • RCSD1-ABL2 fusion resulting from a complex chromosomal rearrangement in high-risk B-cell acute lymphoblastic leukemia Leuk Lymphoma. 2015 Apr; 56(4):1145-7. . View in PubMed
  • RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia Case Rep Hematol. 2015; 2015:353247. . View in PubMed
  • MYC Amplification in Angiosarcoma Arising from an Arteriovenous Graft Site Case Rep Pathol. 2015; 2015:537297. . View in PubMed
  • Genomic aberrations in myeloid sarcoma without blood or bone marrow involvement: characterization of formalin-fixed paraffin-embedded samples by chromosomal microarrays Leuk Res. 2014 Sep; 38(9):1091-6. . View in PubMed
  • Complex or monosomal karyotype and not blast percentage is associated with poor survival in acute myeloid leukemia and myelodysplastic syndrome patients with inv(3)(q21q262)/t(3;3)(q21;q26. 2): a Bone Marrow Pathology Group study. Haematologica. 2014 May; 99(5):821-9. . View in PubMed
  • PLZF staining identifies peripheral T-cell lymphomas derived from innate-like T-cells with TRAV1-2-TRAJ33 TCR-a rearrangement Blood. 2014 Apr 24; 123(17):2742-3. . View in PubMed
  • MECP2 duplication: possible cause of severe phenotype in females Am J Med Genet A. 2014 Apr; 164A(4):1029-34. . View in PubMed
  • Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech J Neurodev Disord. 2013 Oct 02; 5(1):29. . View in PubMed
  • The advantage of using SNP array in clinical testing for hematological malignancies–a comparative study of three genetic testing methods Cancer Genet. 2013 Sep-Oct; 206(9-10):317-26. . View in PubMed
  • Childhood Apraxia of Speech (CAS) in two patients with 16p112 microdeletion syndrome. Eur J Hum Genet. 2013 Apr; 21(4):455-9. . View in PubMed
  • The genomic landscape of hypodiploid acute lymphoblastic leukemia Nat Genet. 2013 Mar; 45(3):242-52. . View in PubMed
  • Leuk Lymphoma. 2013 Feb; 54(2):403-5. . View in PubMed
  • Two cases of localized neuroblastoma with multiple segmental chromosomal alterations and metastatic progression Pediatr Blood Cancer. 2013 Feb; 60(2):332-5. . View in PubMed
  • MLL Rearrangment and EVI1 Deletion in BCR/ABL1 Positive Chronic Myeloid Leukemia J Assoc Genet Technol. 2013; 39(4):190-4. . View in PubMed
  • A Unique “Composite” PTLD with Diffuse Large B-Cell and T/Anaplastic Large Cell Lymphoma Components Occurring 17 Years after Transplant Case Rep Hematol. 2013; 2013:386147. . View in PubMed
  • Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization Genet Med. 2012 Nov; 14(11):928-36. . View in PubMed
  • Acute myeloid leukemia: the challenge of unfavorable cytogenetics Oncology (Williston Park). 2012 Aug; 26(8):724726-7. . View in PubMed
  • Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene Am J Med Genet A. 2012 Jun; 158A(6):1437-41. . View in PubMed
  • Phenotype of FOXP2 haploinsufficiency in a mother and son Am J Med Genet A. 2012 Jan; 158A(1):174-81. . View in PubMed
  • DNA methylation assay for X-chromosome inactivation in female human iPS cells Stem Cell Rev Rep. 2011 Nov; 7(4):969-75. . View in PubMed
  • Chromosomal abnormalities in 2 cases of testicular failure J Androl. 2011 May-Jun; 32(3):226-31. . View in PubMed
  • Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma Genet Med. 2011 May; 13(5):437-42. . View in PubMed
  • Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism Cytogenet Genome Res. 2011; 132(4):233-8. . View in PubMed
  • Next generation sequencing in research and diagnostics of ocular birth defects Mol Genet Metab. 2010 Jun; 100(2):184-92. . View in PubMed
  • Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals Am J Med Genet A. 2010 Apr; 152A(4):904-15. . View in PubMed
  • Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth Am J Med Genet A. 2009 Nov; 149A(11):2437-43. . View in PubMed
  • Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism Am J Med Genet A. 2009 Nov; 149A(11):2588-92. . View in PubMed
  • Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p Genet Med. 2008 Aug; 10(8):599-611. . View in PubMed
  • Paternal deletion 6q243: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 2008 Feb 01; 146A(3):354-60. . View in PubMed
  • Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome Am J Med Genet A. 2008 Feb 01; 146A(3):401-4. . View in PubMed
  • NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory Genet Med. 2005 Oct; 7(8):524-33. . View in PubMed
  • Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR Genet Test. 2004; 8(4):387-94. . View in PubMed
  • Progressive dystonia in a 12-year-old boy Eur J Paediatr Neurol. 2003; 7(2):85-8. . View in PubMed
  • Expansion of the (CTG)(n) repeat in the 5′-UTR of a reporter gene impedes translation Nucleic Acids Res. 2000 Oct 15; 28(20):3943-9. . View in PubMed
  • Trinucleotide repeats affect DNA replication in vivo Nat Genet. 1997 Nov; 17(3):298-304. . View in PubMed